Dataset Information

Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.

ABSTRACT:

Background and objective

Thoracic aortic aneurysm and dissection (TAAD) and its complications are life-threatening conditions. Hypertension and atherosclerosis had all along been recognized as the predominant risk factors for the development of TAAD. However, it was increasingly reported that genetic factors, such as single nucleotide polymorphisms (SNPs), are playing an important role in the disease development. The development of next-generation sequencing (NGS) and the rapid growth in radiomics provide a promising new platform to evaluate genetically triggered thoracic aortic aneurysm and dissection (GTAAD) from a new angle. This review is to present an overview of currently available knowledge regarding the use of radiomics and radiogenomics in GTAAD.

Methods

We performed literature searches in PubMed, EMBASE and Cochrane database from 2012 to 2022 regarding the use of radiomics and radiogenomics in GTAAD.

Key content and findings

There were only 13 studies on radiomics and 4 studies on radiogenomics integration retrieved from the search and it signifies there is still a significant knowledge gap in this field of translational medicine. An overview of the current knowledge of GTAAD, the workflow and role of radiomics, the radiogenomics integration for GTAAD including its potential role in the development of polygenic scores, as well as the implications, challenges, and limitations of radiogenomics research were discussed.

Conclusions

In the contemporary era, radiogenomics has been emerging as a state-of-the art approach to establish statistical correlation with radiomics features with genomic information in diagnosis, risk modeling and prediction and treatment decision in TAAD.

SUBMITTER: Lum RTW

PROVIDER: S-EPMC10477616 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Publications

Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.

Lum Ray Tak Wai RTW Wang Xin X Zhang Miaoru M Zhang Xianrui X Ho Jacky Yan Kit JYK Chow Simon Chi Ying SCY Fujikawa Takuya T Wong Randolph Hung Leung RHL

Annals of translational medicine 20230417 10

<h4>Background and objective</h4>Thoracic aortic aneurysm and dissection (TAAD) and its complications are life-threatening conditions. Hypertension and atherosclerosis had all along been recognized as the predominant risk factors for the development of TAAD. However, it was increasingly reported that genetic factors, such as single nucleotide polymorphisms (SNPs), are playing an important role in the disease development. The development of next-generation sequencing (NGS) and the rapid growth in ...[more]

PMID: 37675315

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Project description:BackgroundThoracic aortic aneurysms progressively enlarge and predispose to acute aortic dissections. Up to 25% of individuals with thoracic aortic disease harbor an underlying Mendelian pathogenic variant. An evidence-based strategy for selection of genes to test in hereditary thoracic aortic aneurysm and dissection (HTAAD) helps inform family screening and intervention to prevent life-threatening thoracic aortic events.ObjectivesThe purpose of this study was to accurately identify genes that predispose to HTAAD using the Clinical Genome Resource (ClinGen) framework.MethodsWe applied the semiquantitative ClinGen framework to assess presumed gene-disease relationships between 53 candidate genes and HTAAD. Genes were classified as causative for HTAAD if they were associated with isolated thoracic aortic disease and were clinically actionable, triggering routine aortic surveillance, intervention, and family cascade screening. All gene-disease assertions were evaluated by a pre-defined curator-expert pair and subsequently discussed with an expert panel.ResultsGenes were classified based on the strength of association with HTAAD into 5 categories: definitive (n = 9), strong (n = 2), moderate (n = 4), limited (n = 15), and no reported evidence (n = 23). They were further categorized by severity of associated aortic disease and risk of progression. Eleven genes in the definitive and strong groups were designated as "HTAAD genes" (category A). Eight genes were classified as unlikely to be progressive (category B) and 4 as low risk (category C). The remaining genes were recent genes with an uncertain classification or genes with no evidence of association with HTAAD.ConclusionsThe ClinGen framework is useful to semiquantitatively assess the strength of gene-disease relationships for HTAAD. Gene categories resulting from the curation may inform clinical laboratories in the development, interpretation, and subsequent clinical implications of genetic testing for patients with aortic disease.

Project description:ObjectiveThoracic aortic aneurysm and dissection (TAAD) is a cardiovascular disease with a high mortality rate. Aging is an important risk factor for TAAD. This study explored the relationship between aging and TAAD and investigated the underlying mechanisms, which may contribute to the diagnosis and treatment of TAAD.MethodsHuman aging genes were obtained from the Aging Atlas official website. Various datasets were downloaded from the GEO database:the human TAAD dataset GSE52093 were used for screening differentially expressed genes (DEGs); GSE137869, GSE102397 and GSE153434 were used as validation sets, and GSE9106 was used for diagnostic prediction of receiver operating characteristic (ROC) curves. Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Set Enrichment Analysis (GSEA), and protein-protein interaction (PPI) network analysis were used to screen differentially co-expressed genes from human aging genes and TAAD. Using five methods of the cytoHubba plugin in Cytoscape software (Degree, Closeness, EPC, MNC, Radiality), hub genes were identified from the differentially co-expressed genes. Single-cell RNA sequencing was used to verify the expression levels of hubgenes in different cell types of aortic tissue. ROC curves were used to further screen for diagnostic genes.ResultsA total of 70 differentially co-expressed genes were screened from human aging genes and DEGs in human TAAD dataset GSE52093. GO enrichment analysis revealed that the DEGs played a major role in regulating DNA metabolism and damaged DNA binding. KEGG enrichment analysis revealed enrichment in the longevity regulating pathway, cellular senescence, and HIF-1 signaling pathway. GSEA indicated that the DEGs were concentrated in the cell cycle and aging-related p53 signaling pathway. The five identified hubgenes were MYC, IL6, HIF1A, ESR1, and PTGS2. Single-cell sequencing of the aging rat aorta showed that hubgenes were expressed differently in different types of cells in aortic tissue. Among these five hubgenes, HIF1A and PTGS2 were validated in the aging dataset GSE102397; MYC, HIF1A and ESR1 were validated in the TAAD dataset GSE153434. The combined area under the diagnostic ROC curve (AUC) values for the five hub genes were >0.7 in the testing and training sets of the dataset GSE9106. The combined AUC values of MYC and ESR1 were equal to the combin ed AUC values of the five hub genes.ConclusionThe HIF-1 signaling pathway may play an important role in TAAD and aging. MYC and ESR1 may have diagnostic value for aging-related TAAD.

Dataset Information

Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.

Background and objective

Methods

Key content and findings

Conclusions

Publications

Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.

Similar Datasets

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